Role of ATG16L, NOD2 and IL23R in Crohn’s disease pathogenesis

Table 1 Key gene polymorphisms and their significance in Crohn’s disease

Gene	Polymorphism	Relationship significance	Ref.
ATG16L	rs2241880	Associated with ileal form of CD with or without colonic involvement	[4,12]
	Thr300Ala	Highly associated with CD
NOD2/CARD15	rs2066844, rs2066845, 3020insC, 1007fs	Independently associated with CD	[20]
IBD5	SLC22A4 (OCTN1), SLC22A5 (OCTN2)	Independently associated with CD	[12]
CTLA4	rs3087243, rs11571302, rs11571297, rs7565213	Associated with IBD; no crude association to CD	[35]
TNFSF15	80 000 SNPs tested, including 7 SNPs within a 280 kb region on chromosome 9q32	Strongly associated with CD for Japanese and Jewish cohorts, but not for Europeans	[4,15,16]
IL23R	rs11209026	Strongly associated with conferring protection against CD	[4,33]
	rs1004819	Highly associated with CD

SNPs: Single-nucleotide polymorphism; CD: Crohn’s disease.